Intronic variants in the dopa decarboxylase (DDC) gene are associated with smoking behavior in European-Americans and African-Americans

Human Molecular Genetics

Volumn 15, Issue 14, 2006, Pages 2192-2199

  Yu, Yi ^a   Panhuysen, Carolien ^a   Kranzler, Henry R ^b   Hesselbrock, Victor ^b   Rounsaville, Bruce ^c   Weiss, Roger ^d,e   Brady, Kathleen ^f   Farrer, Lindsay A ^a   Gelernter, Joel ^c  

^a BOSTON UNIVERSITY   (United States)

^b UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d MCLEAN HOSPITAL   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATIC LEVO AMINO ACID DECARBOXYLASE; ISOENZYME; NICOTINE; NUCLEOTIDE;

ADULT; AFRICAN AMERICAN; ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; ENHANCER REGION; EUROPEAN AMERICAN; EXON; FAMILY STUDY; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCORING SYSTEM; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; STATISTICAL SIGNIFICANCE; TOBACCO DEPENDENCE;

ADULT; AFRICAN AMERICANS; ALLELES; DOPA DECARBOXYLASE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HAPLOTYPES; HUMANS; INTRONS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; TOBACCO USE DISORDER; UNITED STATES; VARIATION (GENETICS);

EID: 33745591389     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl144     Document Type: Article

References (52)

1. WHO (2002) The World Health Report 2002. World Health Organization.
2. Ezzati, M. and Lopez, A.D. (2003) Estimates of global mortality attributable to smoking in 2000. Lancet, 362, 847-852.
3. Mokdad, A.H., Marks, J.S., Stroup, D.F. and Gerberding, J.L. (2004) Actual causes of death in the United States, 2000. JAMA, 291, 1238-1245.
4. Nair, A.K. and Brandt, E.N., Jr. (2000) Effects of smoking on health care costs. J. Okla. State Med. Assoc., 93, 245-250.
5. Stolerman, I.P. and Jarvis, M.J. (1995) The scientific case that nicotine is addictive. Psychopharmacology (Berl.), 117, 2-10; discussion 14-20.
6. Li, M.D. (2003) The genetics of smoking related behavior: A brief review. Am. J. Med. Sci., 326, 168-173.
7. Sullivan, P.F. and Kendler, K.S. (1999) The genetic epidemiology of smoking. Nicotine Tob. Res., 1 (Suppl. 2), S51-S57; discussion S69-S70.
8. Lessov, C.N., Martin, N.G., Statham, D.J., Todorov, A.A., Slutske, W.S., Bucholz, K.K., Heath, A.C. and Madden, P.A. (2004) Defining nicotine dependence for genetic research: Evidence from Australian twins. Psychol. Med., 34, 865-879.
9. Pergadia, M.L., Heath, A.C., Agrawal, A., Bucholz, K.K., Martin, N.G. and Madden, P.A. (2006) The Implications of simultaneous smoking initiation for inferences about the genetics of smoking behavior from twin data. Behav. Genet., 1-10.
10. Kendler, K.S., Thornton, L.M. and Pedersen, N.L. (2000) Tobacco consumption in Swedish twins reared apart and reared together. Arch. Gen. Psychiatry, 57, 886-892.
11. Maes, H.H., Sullivan, P.F., Bulik, C.M., Neale, M.C., Prescott, C.A., Eaves, L.J. and Kendler, K.S. (2004) A twin study of genetic and environmental influences on tobacco initiation, regular tobacco use and nicotine dependence. Psychol. Med., 34, 1251-1261.
12. Vink, J.M., Willemsen, G. and Boomsma, D.I. (2005) Heritability of smoking initiation and nicotine dependence. Behav. Genet., 35, 397-406.
13. Niu, T., Chen, C., Ni, J., Wang, B., Fang, Z., Shao, H. and Xu, X. (2000) Nicotine dependence and its familial aggregation in Chinese. Int. J. Epidemiol., 29, 248-252.
14. Bierut, L.J., Rice, J.P., Goate, A., Hinrichs, A.L., Saccone, N.L., Foroud, T., Edenberg, H.J., Cloninger, C.R., Begleiter, H., Conneally, P.M. et al. (2004) A genomic scan for habitual smoking in families of alcoholics: Common and specific genetic factors in substance dependence. Am. J. Med. Genet. A, 124, 19-27.
15. Gelernter, J., Liu, X., Hesselbrock, V., Page, G.P., Goddard, A. and Zhang, H. (2004) Results of a genomewide linkage scan: Support for chromosomes 9 and 11 loci increasing risk for cigarette smoking. Am. J. Med. Genet. B Neuropsychiatr. Genet., 128, 94-101.
16. Straub, R.E., Sullivan, P.F., Ma, Y., Myakishev, M.V., Harris-Kerr, C., Wormley, B., Kadambi, B., Sadek, H., Silverman, M.A., Webb, B.T. et al. (1999) Susceptibility genes for nicotine dependence: A genome scan and followup in an independent sample suggest that regions on chromosomes 2, 4, 10, 16, 17 and 18 merit further study. Mol. Psychiatry, 4, 129-144.
17. Wang, D., Ma, J.Z. and Li, M.D. (2005) Mapping and verification of susceptibility loci for smoking quantity using permutation linkage analysis. Pharmacogenomics J., 5, 166-172.
18. Craig, S.P., Thai, A.L., Weber, M. and Craig, I.W. (1992) Localisation of the gene for human aromatic ι-amino acid decarboxylase (DDC) to chromosome 7p13 → p11 by in situ hybridisation. Cytogenet. Cell Genet., 61, 114-116.
19. Christenson, J.G., Dairman, W. and Udenfriend, S. (1972) On the identity of DOPA decarboxylase and 5-hydroxytryptophan decarboxylase (immunological titration-aromatic ι-amino acid decarboxylase - serotonin - dopamine - norepinephrine). Proc. Natl Acad. Sci. USA, 69, 343-347.
20. Berry, M.D., Juorio, A.V., Li, X.M. and Boulton, A.A. (1996) Aromatic ι-amino acid decarboxylase: A neglected and misunderstood enzyme. Neurochem. Res., 21, 1075-1087.
21. Borglum, A.D., Hampson, M., Kjeldsen, T.E., Muir, W., Murray, V., Ewald, H., Mors, O., Blackwood, D. and Kruse, T.A. (2001) Dopa decarboxylase genotypes may influence age at onset of schizophrenia. Mol. Psychiatry, 6, 712-717.
22. Borglum, A.D., Bruun, T.G., Kjeldsen, T.E., Ewald, H., Mors, O., Kirov, G., Russ, C., Freeman, B., Collier, D.A. and Kruse, T.A. (1999) Two novel variants in the DOPA decarboxylase gene: Association with bipolar affective disorder. Mol. Psychiatry, 4, 545-551.
23. Borglum, A.D., Kirov, G., Craddock, N., Mors, O., Muir, W., Murray, V., McKee, I., Collier, D.A., Ewald, H., Owen, M.J. et al. (2003) Possible parent-of-origin effect of Dopa decarboxylase in susceptibility to bipolar affective disorder. Am. J. Med. Genet. B Neuropsychiatr. Genet., 117, 18-22.
24. Hawi, Z., Foley, D., Kirley, A., McCarron, M., Fitzgerald, M. and Gill, M. (2001) Dopa decarboxylase gene polymorphisms and attention deficit hyperactivity disorder (ADHD): No evidence for association in the Irish population. Mol. Psychiatry, 6, 420-424.
25. Jahnes, E., Muller, D.J., Schulze, T.G., Windemuth, C., Cichon, S., Ohlraun, S., Fangerau, H., Held, T., Maier, W., Propping, P. et al. (2002) Association study between two variants in the DOPA decarboxylase gene in bipolar and unipolar affective disorder. Am. J. Med. Genet., 114, 519-522.
26. Zhang, B., Jia, Y., Yuan, Y., Yu, X., Xu, Q. and Shen, Y. (2004) No association between polymorphisms in the DDC gene and paranoid schizophrenia in a northern Chinese population. Psychiatr. Genet., 14, 161-163.
27. Ma, J.Z., Beuten, J., Payne, T.J., Dupont, R.T., Elston, R.C. and Li, M.D. (2005) Haplotype analysis indicates an association between the DOPA decarboxylase (DDC) gene and nicotine dependence. Hum. Mol. Genet., 14, 1691-1698.
28. Colhoun, H.M., McKeigue, P.M. and Davey Smith, G. (2003) Problems of reporting genetic associations with complex outcomes. Lancet, 361, 865-872.
29. Tabor, H.K., Risch, N.J. and Myers, R.M. (2002) Opinion: Candidate-gene approaches for studying complex genetic traits: Practical considerations. Nat. Rev. Genet., 3, 391-397.
30. Gelernter, J., Panhuysen, C., Weiss, R., Brady, K., Hesselbrock, V., Rounsaville, B., Poling, J., Wilcox, M., Farrer, L. and Kranzler, H.R. (2005) Genomewide linkage scan for cocaine dependence and related traits: Significant linkages for a cocaine-related trait and cocaine-induced paranoia. Am. J. Med. Genet. B Neuropsychiatr. Genet., 136, 45-52.
31. Pierucci-Lagha, A., Gelernter, J., Feinn, R., Cubells, J.F., Pearson, D., Pollastri, A., Farrer, L. and Kranzler, H.R. (2005) Diagnostic reliability of the Semi-structured Assessment for Drug Dependence and Alcoholism (SSADDA). Drug Alcohol Depend., 80, 303-312.
32. Johnson, W.A., McCormick, C.A., Bray, S.J. and Hirsh, J. (1989) A neuron-specific enhancer of the Drosophila dopa decarboxylase gene. Genes Dev., 3, 676-686.
33. Moolchan, E.T., Radzius, A., Epstein, D.H., Uhl, G., Gorelick, D.A., Cadet, J.L. and Henningfield, J.E. (2002) The Fagerstrom Test for Nicotine Dependence and the Diagnostic Interview Schedule: Do they diagnose the same smokers? Addict. Behav., 27, 101-113.
34. Kuersten, S. and Goodwin, E.B. (2003) The power of the 3′-UTR: translational control and development. Nat. Rev. Genet., 4, 626-637.
35. Vassilacopoulou, D., Sideris, D.C., Vassiliou, A.G. and Fragoulis, E.G. (2004) Identification and characterization of a novel form of the human ι-dopa decarboxylase mRNA. Neurochem. Res., 29, 1817-1823.
36. O'Malley, K.L., Harmon, S., Moffat, M., Uhland-Smith, A. and Wong, S. (1995) The human aromatic L-amino acid decarboxylase gene can be alternatively spliced to generate unique protein isoforms. J. Neurochem., 65, 2409-2416.
37. Ichinose, H., Sumi-Ichinose, C., Ohye, T., Hagino, Y., Fujita, K. and Nagatsu, T. (1992) Tissue-specific alternative splicing of the first exon generates two types of mRNAs in human aromatic ι-amino acid decarboxylase. Biochemistry, 31, 11546-11550.
38. Djali, P.K., Dimaline, R. and Dockray, G.J. (1998) Novel form of ι-aromatic amino acid decarboxylase mRNA in rat antral mucosa. Exp. Physiol., 83, 617-627.
39. Yeo, G., Hoon, S., Venkatesh, B. and Burge, C.B. (2004) Variation in sequence and organization of splicing regulatory elements in vertebrate genes. Proc. Natl Acad. Sci. USA, 101, 15700-15705.
40. Shen, J. and Hirsh, J. (1994) cis-regulatory sequences responsible for alternative splicing of the Drosophila dopa decarboxylase gene. Mol. Cell. Biol., 14, 7385-7393.
41. Dredge, B.K. and Darnell, R.B. (2003) Nova regulates GABA(A) receptor gamma2 alternative splicing via a distal downstream UCAU-rich intronic splicing enhancer. Mol. Cell. Biol., 23, 4687-4700.
42. Gelernter, J.P.C., Wilcox, M., Hesselbrock, V., Rounsaville, B., Poling, J., Weiss, R., Sonne, S., Farrer, L. and Kranzler, H.R. (2006) Genomewide linkage scan for opioid dependence and related traits. Am. J. Hum. Genet., 78, 759-769.
43. American Psychiatric Association (1994) Diagnostic and Statistical Manual of Mental Disorders, 4th edn. American Psychiatric Press, Washington, D.C.
44. Heatherton, T.F., Kozlowski, L.T., Frecker, R.C. and Fagerstrom, K.O. (1991) The Fagerstrom Test for Nicotine Dependence: A revision of the Fagerstrom Tolerance Questionnaire. Br. J. Addict., 86, 1119-1127.
45. Sumi-Ichinose, C., Ichinose, H., Takahashi, E., Hori, T. and Nagatsu, T. (1992) Molecular cloning of genomic DNA and chromosomal assignment of the gene for human aromatic ι-amino acid decarboxylase, the enzyme for catecholamine and serotonin biosynthesis. Biochemistry, 31, 2229-2238.
46. The International HapMap Consortium (2003) The International HapMap Project. Nature, 426, 789-796.
47. Shi, M.M., Myrand, S.P., Bleavins, M.R. and dela Iglesia, F.A. (1999) High throughput genotyping for the detection of a single nucleotide polymorphism in NAD(P)H quinone oxidoreductase (DT diaphorase) using TaqMan probes. Mol. Pathol., 52, 295-299.
48. O'Connell, J.R. and Weeks, D.E. (1998) PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am. J. Hum. Genet., 63, 259-266.
49. Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21, 263-265.
50. Gabriel, S.B., Schaffner, S.F., Nguyen, H., Moore, J.M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M. et al. (2002) The structure of haplotype blocks in the human genome. Science, 296, 2225-2229.
51. Horvath, S., Xu, X. and Laird, N.M. (2001) The family based association test method: Strategies for studying general genotype - phenotype associations. Eur. J. Hum. Genet., 9, 301-306.
52. Horvath, S., Xu, X., Lake, S.L., Silverman, E.K., Weiss, S.T. and Laird, N.M. (2004) Family-based tests for associating haplotypes with general phenotype data: Application to asthma genetics. Genet. Epidemiol., 26, 61-69.